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Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

11 Sept 2023

Abstract excerpt

BACKGROUND: Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to membranopathies, enzymopathies, or hemoglobinopathies. Because these are genetic disorders, incorporation of next-generation sequencing (NGS) has facilitated the diagnostic process of HHA. METHOD:...

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Blood groups and transfusion
Complement system in diseases
Erythrocyte Function and Pathophysiology

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37697358
DOI: 10.1186/s12920-023-01648-y

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